Meet Our Families
A growing number of families affected by ITSN1 are joining our community. Hear their stories and learn why they're supporting urgently needed research.
Owen's Story
Owen has always been his family's ray of sunshine. After he hit his early milestones, Owen's parents, Jennifer and Peter, noticed things changed. At around 3 years old, Owen began struggling to talk, complete everyday tasks, and connect with other kids. He was diagnosed with autism, and genetic testing later uncovered a mutation in his ITSN1 gene, a gene so understudied that his family struggled to find answers. Then came an extraordinary moment of serendipity.
Jennifer and Peter discovered Dr. Ryan Dhindsa at Texas Children's Duncan Neurological Research Institute, where he is actively studying ITSN1. Today, they are working side-by-side to better understand how this gene impacts the brain and how targeted therapies could change lives.
Cooper's Story
Cooper came into his parents' lives and felt like the missing puzzle piece to their family, bringing so much joy, love, and happiness into their home. But as he got older, Cooper stopped talking and struggled to sleep or make eye contact. Eventually, genetic testing revealed a mutation in his ITSN1 gene, beginning a long series of questions about Cooper's future and how best to help him.
Today, Cooper's family is supporting research for ITSN1 to help get answers for Cooper and all kids like him, to turn confusion and fear into understanding, and ultimately into new treatments and better support.
Lucas' Story
Since he was a baby, Lucas has always been happy, fun-loving, and kind. But when he was 2 years old, his mother, Jennifer, noticed signs of sleep and speech regression. A few years later, Lucas was diagnosed with autism. When his skills continued to regress, the family did genetic testing and discovered a genetic mutation in Lucas' ITSN1 gene, leaving Jennifer with so many questions.
But today, there is hope. Jennifer, Lucas, and their family are supporting research for ITSN1 that could help shed light on this gene and future therapies, making many families feel far less alone as they navigate something so rare. Despite the challenges he faces — from struggling to hold a pencil to walking long distances — Lucas shows resilience every single day.
Quarterly Parent Meetings
We host quarterly online meetings where ITSN1 families connect, share experiences, and support one another. New families are always welcome — reach out through our contact form to get invited.
Contact Us to Get Invited